Genetic Testing for Women: Which Tests and When

Medically reviewed by the Materna Health Medical Team

Genetic testing for women comes up at several points in life: when you are planning a pregnancy, once you are pregnant, and when you are thinking about your own long-term health. Each test answers a different question.

This guide lays out the main tests by life stage, what each one tells you, and how to choose the ones that fit you.

What genetic testing can tell you

Most genetic tests in women's health answer one of three questions. Once you know which question you are asking, the right test becomes clear.

A fourth group, embryo testing, applies to families going through in vitro fertilization. All of these use a simple blood or saliva sample from you, apart from embryo testing, which is done in the fertility lab.

Before pregnancy: carrier screening

Carrier screening shows whether you carry a gene change for an inherited condition, such as cystic fibrosis or spinal muscular atrophy, that you could pass to a child. Carriers are healthy. The result matters when both partners carry a change in the same gene.

The American College of Obstetricians and Gynecologists recommends offering carrier screening to everyone who is pregnant or planning a pregnancy, ideally before conception. You only need it once.

Our full guide to genetic carrier screening covers the process step by step. It pairs well with a preconception appointment, where the test can be ordered.

During pregnancy: prenatal genetic screening

Prenatal genetic screening looks at how your pregnancy is developing. The best known test is cell-free DNA screening, often called NIPT. It uses a blood sample from you, starting at about 10 weeks, to screen for chromosome conditions such as Down syndrome.

ACOG guidance says prenatal genetic screening should be offered to every pregnant woman, at every age. Screening tests estimate a chance. Diagnostic tests, such as chorionic villus sampling and amniocentesis, give a definite answer and are available whenever you would like one.

The first weeks of pregnancy are a good time to decide which screening you want. Our early pregnancy ultrasound confirms your dates, which helps time these tests well, and pregnancy reassurance visits give you space to ask every question.

Newly pregnant and sorting out which tests to choose? We can see you the same day or the next day, confirm your dates, and walk through your options before your first OB/GYN visit. Book an early pregnancy visit.

At any stage: hereditary cancer testing

Hereditary cancer testing looks at your own inherited health picture. It checks genes such as BRCA1 and BRCA2, linked to breast and ovarian cancer, and the Lynch syndrome genes, linked to colon and uterine cancer.

This testing starts with family history. The US Preventive Services Task Force recommends an assessment for women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer, or ancestry linked to BRCA changes. ACOG recommends reviewing family history regularly as part of routine women's health care.

The result is useful at every stage. It shapes fertility planning, screening during and after pregnancy, and later choices about hormone care. Our cancer risk assessment page has a two minute self-check, and our guide to BRCA testing before pregnancy goes deeper on timing.

For IVF: embryo testing

Families using in vitro fertilization can choose to test embryos before transfer. PGT-A checks chromosome number. PGT-M looks for one specific inherited condition already known in the family, such as a BRCA change or cystic fibrosis.

Your fertility clinic guides this testing. If you are cycling with a clinic and need local scans, our follicular monitoring in NYC works alongside your clinic's plan.

How to choose the right genetic tests

Three steps make the choice simple.

1. Gather your family history. Ask about three generations on both sides: who had which condition, and at what age. Share whatever you learn, in any amount.
2. Match the test to your stage. Planning a pregnancy points to carrier screening. Being pregnant points to prenatal screening. A family history of cancer points to hereditary cancer testing.
3. Talk it through. A clinician or genetic counselor can confirm which tests fit and explain what each result would mean for you.

Most inherited tests are done once in a lifetime. Your family history is worth updating every year or two, since new information can open new options.

What this means at Materna

At Materna Health, we make time for this conversation. In a preconception visit in NYC, we go through your family history, order carrier screening when it fits, and help you plan what comes next.

In early pregnancy, we confirm your dates and talk through your prenatal screening options so you arrive at your OB/GYN visit ready. We work alongside your OB/GYN as an extra set of hands, with same-day and next-day visits.

For hereditary cancer testing, we connect you with our partner Previvor Edge for a full hereditary cancer risk assessment by telehealth. You bring your plan back, and we build it into your care, including postpartum care beyond six weeks.

Genetic testing for women FAQs

Is carrier screening the same as hereditary cancer testing?

They answer different questions. Carrier screening looks at conditions you could pass to a child. Hereditary cancer testing looks at your own inherited health picture. Many women choose both.

Is genetic testing done with blood or saliva?

Either one. Carrier screening and hereditary cancer testing can use blood or saliva. Prenatal cell-free DNA screening uses a blood sample from you.

Can I have genetic testing while I am pregnant?

Yes. Carrier screening, prenatal screening, and hereditary cancer testing all use a sample from you and are safe during pregnancy.

Does insurance cover genetic testing?

Coverage depends on the test and your plan. Many plans cover carrier screening and prenatal screening in pregnancy, and BRCA counseling is covered as preventive care for women who meet the family history criteria.

How often do I need genetic testing?

Inherited genes stay the same, so most of these tests are done once. Prenatal screening is the exception, since it is specific to each pregnancy.

Genetic testing is information you can use. One test helps you plan a pregnancy, one supports the pregnancy you are in, and one looks after your own health for the long run. Your family history ties them together.

We are happy to help you sort out which tests fit. Book a preconception visit or call (917) 938-7745, and we will see you this week.

Related reading from Materna

• BRCA testing before pregnancy: what to know
• genetic carrier screening: what it is and who needs it
• what a complete fertility workup includes
• pregnant after 35: why the odds are better than you think